ArticleBMC endocrine disorders2016
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
Article in BMC endocrine disorders, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- Persistent Müllerian structures in an infant with complete androgen insensitivity syndrome.JCEM case reports · 2026Article
- Genetic Testing in Endocrinology.The Clinical biochemist. Reviews · 2018Review
- AAsian journal of andrologyArticle
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Authors and funding
6 authors at 5 institutions in 1 country.
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Abstract
backgroundThe 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated. CASE PRESENTATION: Herein we describe a 46,XY woman who was first diagnosed with androgen insensitivity syndrome (testicular feminisation) at 18 years; however, this was later questioned due to the presence of intact Müllerian structures. The clinical phenotype suggested several susceptibility genes including SRY, DHH, NR5A1, NR0B1, AR, AMH, and AMHR2. To study candidate genes simultaneously, we performed whole genome sequencing. This revealed a novel and likely pathogenic missense variant (p.Arg130Pro, c.389G>C) in SRY, one of the major genes implicated in complete gonadal dysgenesis, hence securing this condition over androgen insensitivity syndrome as the cause of the patient's disorder of sexual development.
conclusionThis case highlights the emerging clinical utility of whole genome sequencing as a tool in differentiating disorders of sexual development.
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